A unique feature of endocrinology research at the William Harvey Research Institute is our focus on life-course consequences of endocrine and metabolic diseases from conception to old-age and their biological bases.
Clinical and research collaboration between paediatric and adult endocrinologists is delivering ground-breaking discoveries and an international patient referral base, providing access to unique patients and families. Our Discovery Science and Experimental Medicine successes include achieving major advances in understanding the nature and causes of Familial Pituitary Adenoma and identifying six novel genes causing Familial Glucocorticoid Deficiency, thereby providing new insights into the cellular processes regulating steroidogenesis. Adrenal and pituitary development, mitochondrial and stem cell physiology and intracellular trafficking are complementary ongoing research interests at Endocrinology, as is the study of novel genes underlying the timing of puberty, the risk of dyslipidemia and rare bone diseases.
The translational aspects of our work are both inspired and supported by our clinical and basic research collaboration, which continues to serve us well in attracting high-quality clinical and non-clinical PhD students and more senior investigators to this truly international centre of excellence.
Key research areas
- Human-induced steroidogenic cells generated from fibroblasts, blood-, and urine-derived cells (Cell Report)
- Transcription factor 7-like 1 involved in hypothalamo-pituitary axis development (PNAS)
- Adrenal insufficiency and steroid-resistant nephrotic syndrome caused by SGPL1 mutations (JCI)
- IGSF10 mutations dysregulate gonadotropin-releasing hormone neuronal migration, delaying puberty (Embo Mol Med)
- MAFA missense mutation causes familial insulinomatosis and diabetes mellitus (PNAS)
- Novel role of collagen XVIII isoform in adipose tissue accrual (PNAS)
- Sacsin effects intermediate filament network organization (Hum Mol Gen)
- Understanding the pathophysiology and genealogy of Familial Pituitary Adenomas (NEJM, JCEM, Hum Mut), as well as increasing public awareness of these adenomas, for example, through the establishment of a patient-directed website
- Kisspeptin Is a Novel Regulator of Human Fetal Adrenocortical Development (JCEM)
- Lead in formulating the NICE guidelines for managing of adult growth hormone deficiency due to our long-standing contribution in managing these conditions (Monson/Drake)
- Increased public awareness and genetic diagnosis of short stature disorders through the establishment of a Genetic Research Analysing Short Patients (GRASP) website
- Knowledge transfer to clinicians through distance learning
- Significant MRC, Wellcome Trust, BHF, BTLC, European Union Horizon 2020 program, Children with Cancer UK, NIHR, BBSRC, Ataxia of Charlevoix-Saguenay Foundation, IPSEN, Prince Songkla University, Diabetes UK, Rosetrees Trust, IFCAH, UK Clinical Research Network, as well as funds from Sandoz and Pfzier underpin our clinical and research programmes.
- Enviable track-record of securing funding for clinical training and clinical scientist fellowships from MRC and Wellcome Trust, as well as the Bart’s and London Charity
- MSc Endocrinology and Diabetes
Our partnership with Clinical Endocrinology at Barts Health NHS Trust at St. Bartholomew’s Hospital enables detailed studies of pathogenesis and therapeutic options for rare and common endocrine and metabolic diseases.